Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00503:Kdf1'

332486

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kdf1

Ensembl Gene

ENSMUSG00000037600

Gene Name

keratinocyte differentiation factor 1

Synonyms

1810019J16Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00503

Quality Score

Status

Chromosome

Chromosomal Location

133246274-133258101 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133255468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 62 (S62P)

Ref Sequence

ENSEMBL: ENSMUSP00000113590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030665] [ENSMUST00000042919] [ENSMUST00000105901] [ENSMUST00000121797] [ENSMUST00000149807] [ENSMUST00000153811]

AlphaFold

A2A9F4

Predicted Effect

probably benign
Transcript: ENSMUST00000030665

SMART Domains

Protein: ENSMUSP00000030665
Gene: ENSMUSG00000028851

Domain	Start	End	E-Value	Type
Pfam:Nudc_N	9	60	3.7e-16	PFAM
Pfam:NuDC	96	157	9.5e-23	PFAM
Pfam:CS	171	248	3.1e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000042919
AA Change: S62P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048768
Gene: ENSMUSG00000037600
AA Change: S62P

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	34	397	5.4e-182	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105901
AA Change: S62P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101521
Gene: ENSMUSG00000037600
AA Change: S62P

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	397	4e-216	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121797
AA Change: S62P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113590
Gene: ENSMUSG00000037600
AA Change: S62P

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	375	1.4e-199	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141860

Predicted Effect

probably damaging
Transcript: ENSMUST00000149807
AA Change: S62P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119014
Gene: ENSMUSG00000037600
AA Change: S62P

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	265	3e-132	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153811
AA Change: S62P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122170
Gene: ENSMUSG00000037600
AA Change: S62P

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	173	4.6e-74	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit neonatal lethality, short limbs, increased keratinocyte proliferation and impaired keratinocyte differentiation with epidermis overgrowth that covers ear and mouth openings and fuses the hindlimb, tail and genitals. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	A	18: 69,083,173 (GRCm39)	R14*	probably null	Het
Abcb5	A	G	12: 118,871,336 (GRCm39)	S688P	probably benign	Het
Adgb	T	A	10: 10,281,843 (GRCm39)	Q597L	possibly damaging	Het
Aga	G	A	8: 53,971,956 (GRCm39)	V210I	probably benign	Het
Akap17b	A	G	X: 35,875,963 (GRCm39)	S515P	probably damaging	Het
Brinp3	A	T	1: 146,776,905 (GRCm39)	T451S	probably benign	Het
Cabcoco1	G	T	10: 68,377,635 (GRCm39)	T18N	possibly damaging	Het
Ccar2	C	T	14: 70,379,980 (GRCm39)	W402*	probably null	Het
Ccdc15	G	A	9: 37,231,769 (GRCm39)	A185V	probably damaging	Het
Ccdc50	G	A	16: 27,228,102 (GRCm39)	E90K	probably damaging	Het
Cckbr	G	A	7: 105,083,449 (GRCm39)	M217I	probably benign	Het
Clec16a	A	G	16: 10,512,513 (GRCm39)	T398A	possibly damaging	Het
Col4a1	A	G	8: 11,290,076 (GRCm39)		probably benign	Het
Cyp4v3	T	A	8: 45,760,058 (GRCm39)	E498V	probably damaging	Het
Dgke	T	C	11: 88,932,327 (GRCm39)	I488V	probably benign	Het
Dip2c	A	G	13: 9,617,934 (GRCm39)	D443G	probably damaging	Het
Edem3	T	G	1: 151,694,264 (GRCm39)	S852A	probably benign	Het
Fbxo8	T	A	8: 57,041,058 (GRCm39)	M158K	probably benign	Het
Galnt15	C	T	14: 31,774,313 (GRCm39)	T359M	possibly damaging	Het
Herc6	A	G	6: 57,584,130 (GRCm39)	N330D	probably benign	Het
Larp4	T	A	15: 99,885,302 (GRCm39)	I51N	probably damaging	Het
Mfsd6l	T	A	11: 68,447,299 (GRCm39)	I50N	probably damaging	Het
Mroh2b	A	G	15: 4,928,679 (GRCm39)	Y4C	probably benign	Het
Muc17	G	T	5: 137,165,971 (GRCm39)	Y343*	probably null	Het
Myom2	A	C	8: 15,164,289 (GRCm39)		probably null	Het
Npat	A	T	9: 53,483,949 (GRCm39)		probably benign	Het
Pamr1	A	T	2: 102,472,617 (GRCm39)	I639F	possibly damaging	Het
Pcsk2	A	G	2: 143,635,159 (GRCm39)	S345G	probably damaging	Het
Pcyt1a	A	G	16: 32,285,919 (GRCm39)	T197A	probably damaging	Het
Pkd1	A	G	17: 24,784,401 (GRCm39)	M316V	probably benign	Het
Plekhs1	T	C	19: 56,453,031 (GRCm39)		probably null	Het
Sema3e	G	T	5: 14,290,586 (GRCm39)	R557M	probably damaging	Het
Sgsm1	T	C	5: 113,424,008 (GRCm39)	N154S	probably benign	Het
Smg1	A	T	7: 117,784,706 (GRCm39)		probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Spats1	A	T	17: 45,765,011 (GRCm39)		probably null	Het
Tnfaip6	T	G	2: 51,945,859 (GRCm39)	V235G	probably damaging	Het
Trim34a	A	T	7: 103,910,538 (GRCm39)	T447S	probably damaging	Het
Tut1	G	A	19: 8,936,460 (GRCm39)	A95T	probably damaging	Het
Urgcp	C	T	11: 5,666,448 (GRCm39)	R630Q	possibly damaging	Het
Vmn1r125	G	T	7: 21,006,106 (GRCm39)	M1I	probably null	Het
Vmn2r99	A	G	17: 19,599,116 (GRCm39)	T267A	probably benign	Het
Wdr5	A	G	2: 27,410,879 (GRCm39)	K162E	probably benign	Het
Zscan26	T	G	13: 21,629,271 (GRCm39)	K285Q	probably damaging	Het

Other mutations in Kdf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2860:Kdf1	UTSW	4	133,255,852 (GRCm39)	missense	probably damaging	1.00
R2861:Kdf1	UTSW	4	133,255,852 (GRCm39)	missense	probably damaging	1.00
R2862:Kdf1	UTSW	4	133,255,852 (GRCm39)	missense	probably damaging	1.00
R3035:Kdf1	UTSW	4	133,255,373 (GRCm39)	missense	probably benign	0.03
R4851:Kdf1	UTSW	4	133,255,676 (GRCm39)	missense	probably damaging	1.00
R5267:Kdf1	UTSW	4	133,256,258 (GRCm39)	missense	probably damaging	1.00
R6980:Kdf1	UTSW	4	133,256,138 (GRCm39)	missense	probably damaging	1.00
R7162:Kdf1	UTSW	4	133,257,229 (GRCm39)	missense	unknown
R7779:Kdf1	UTSW	4	133,255,796 (GRCm39)	missense	probably damaging	1.00
R8554:Kdf1	UTSW	4	133,256,188 (GRCm39)	missense	probably damaging	0.97
R8881:Kdf1	UTSW	4	133,257,654 (GRCm39)	missense	possibly damaging	0.82
R8885:Kdf1	UTSW	4	133,255,505 (GRCm39)	missense	probably damaging	1.00
R9135:Kdf1	UTSW	4	133,256,140 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-08-05